Cancer Genetics and Epigenetics 2024, Vol.12, No.2, 70-78 http://medscipublisher.com/index.php/cge 72 The principles of personalized medicine primarily rely on advancements in two key areas: genomics and bioinformatics. Genomics provides the techniques and methods to study human genes, gene variations, and gene expressions, while bioinformatics is responsible for analyzing these extensive genomic data to extract crucial information related to disease onset and progression. By integrating knowledge and technology from these domains, physicians can perform in-depth analyses of a patient’s genome, identify gene mutations related to diseases, predict disease risks and progression, and tailor the most appropriate treatment plans for patients. Personalized medicine not only improves treatment outcomes and reduces unnecessary medical expenses but also enhances patients' quality of life. By precisely selecting drugs and treatment methods, ineffective treatments and the side effects and complications of overtreatment can be avoided. Furthermore, personalized medicine encourages patients to actively participate in their medical decision-making process, enhancing communication and trust between doctors and patients. 2.2 Utilizing genomic technologies for personalized cancer treatment Utilizing genomic technologies for personalized cancer treatment represents a revolutionary medical model that formulates customized treatment plans based on the unique genetic backgrounds and disease characteristics of patients. In personalized cancer treatment, genomic technologies play a crucial role (Hill et al., 2018). High-throughput sequencing and other genomic technologies enable researchers to obtain comprehensive genomic information from patients, including gene sequences, expression levels, and variations. This data provides physicians with a rich source of information, allowing them to accurately understand the type and progression of a patient’s disease and thereby choose the most suitable treatment plans. Based on genomic data, physicians can predict patients' responses to specific drugs and their therapeutic effects, thus avoiding ineffective treatments and their associated side effects and complications. For instance, certain cancer patients may have specific gene mutations that cause resistance to some drugs. Through genomic testing, doctors can quickly identify these mutations and select alternative, more effective medications (Yamaguchi et al., 2018). Moreover, genomic technologies also help researchers discover new therapeutic targets and develop novel drugs. By thoroughly studying cancer genomes, scientists can identify key genes and signaling pathways related to cancer development and progression, thereby developing targeted drugs or immunotherapies aimed at these targets. These new treatments offer higher selectivity and efficacy, providing cancer patients with better survival chances and quality of life. 2.3 Processes and methods of personalized treatment 2.3.1 Genomic sequencing and analysis Genomic sequencing and analysis are the core components of the field of genomics, providing deep insights into an organism’s genome. Genomic sequencing involves using high-throughput sequencing technology to sequence the entire genome of an organism, thereby obtaining complete genomic information. During this process, researchers use advanced sequencing equipment and reagents to convert the genetic material of an organism into digital signals, thus obtaining genomic sequence data (Satta et al., 2018). After sequencing, the next step is genomic analysis, which includes quality control of sequencing data, alignment to reference genomes, identification of gene variants, and analysis of gene expression, among other steps. By employing bioinformatics tools and algorithms, researchers can deeply mine genomic data to reveal the genomic structure, gene functions, regulatory mechanisms, and key mutations related to disease onset and progression (Figure 1). 2.3.2 Selection of molecular targeted drugs The selection of molecular targeted drugs is a significant advancement in the field of cancer treatment, based on genomic research findings. This approach precisely targets specific molecular abnormalities in cancer. Initially, it involves determining the genomic characteristics of a cancer patient, typically through sequencing and expression analysis of tumor samples. Through these analyses, researchers can identify gene mutations and abnormal signaling pathways closely related to cancer development and progression.
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